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1220573009: Primary dystonia type 27 (disorder)


Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5045216019 Primary dystonia DYT27 type en Synonym Active Initial character case insensitive SNOMED CT core
5045217011 Primary dystonia type 27 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5045218018 Primary dystonia type 27 en Synonym Active Case insensitive SNOMED CT core
5045219014 A rare genetic dystonia with characteristics of focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary dystonia DYT27 type Is a Dystonia true Inferred relationship Some
Primary dystonia DYT27 type Is a Hereditary disorder of nervous system true Inferred relationship Some
Primary dystonia DYT27 type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary dystonia DYT27 type Interprets Movement true Inferred relationship Some 2
Primary dystonia DYT27 type Finding site Extrapyramidal system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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